Incidental Mutation 'IGL02185:Eloa'
| ID |
283607 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Eloa
|
| Ensembl Gene |
ENSMUSG00000028668 |
| Gene Name |
elongin A |
| Synonyms |
Tceb3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02185
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
135730681-135748960 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 135740290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030427]
|
| AlphaFold |
Q8CB77 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030427
|
| SMART Domains |
Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668
| Domain | Start | End | E-Value | Type |
|---|
|
TFS2N
|
7 |
78 |
2.73e-26 |
SMART |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
277 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
425 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
490 |
N/A |
INTRINSIC |
|
Pfam:Elongin_A
|
565 |
663 |
7.2e-31 |
PFAM |
|
low complexity region
|
704 |
719 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142289
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh5 |
A |
G |
3: 138,156,815 (GRCm39) |
D167G |
probably benign |
Het |
| C9orf72 |
A |
T |
4: 35,197,046 (GRCm39) |
W340R |
probably damaging |
Het |
| Cand2 |
G |
A |
6: 115,766,471 (GRCm39) |
A359T |
probably benign |
Het |
| Cnnm2 |
T |
C |
19: 46,751,434 (GRCm39) |
V408A |
probably benign |
Het |
| Ern2 |
T |
C |
7: 121,772,598 (GRCm39) |
|
probably benign |
Het |
| Hs6st3 |
A |
G |
14: 120,106,296 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,233,108 (GRCm39) |
I1736F |
possibly damaging |
Het |
| Ifrd2 |
A |
T |
9: 107,468,290 (GRCm39) |
I253F |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,181,299 (GRCm39) |
V241I |
possibly damaging |
Het |
| Lcp1 |
T |
C |
14: 75,466,740 (GRCm39) |
F616L |
possibly damaging |
Het |
| Lyst |
C |
T |
13: 13,835,678 (GRCm39) |
Q1787* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,845,144 (GRCm39) |
T342S |
possibly damaging |
Het |
| Mcph1 |
A |
G |
8: 18,719,006 (GRCm39) |
|
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,730,571 (GRCm39) |
H868R |
probably benign |
Het |
| Mefv |
T |
C |
16: 3,533,714 (GRCm39) |
T186A |
probably benign |
Het |
| Nol9 |
T |
A |
4: 152,142,368 (GRCm39) |
I666N |
probably damaging |
Het |
| Or51t4 |
T |
A |
7: 102,597,721 (GRCm39) |
N16K |
probably damaging |
Het |
| Or6c205 |
G |
T |
10: 129,086,904 (GRCm39) |
C167F |
possibly damaging |
Het |
| Or8b8 |
A |
C |
9: 37,809,531 (GRCm39) |
Y277S |
probably damaging |
Het |
| Pum2 |
T |
C |
12: 8,798,955 (GRCm39) |
|
probably null |
Het |
| Rpgrip1 |
A |
C |
14: 52,349,685 (GRCm39) |
K24N |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,797,548 (GRCm39) |
T122S |
probably damaging |
Het |
| Sfn |
A |
G |
4: 133,328,636 (GRCm39) |
S149P |
probably benign |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Slc35a1 |
A |
G |
4: 34,675,584 (GRCm39) |
V81A |
probably benign |
Het |
| Trav21-dv12 |
A |
T |
14: 54,113,955 (GRCm39) |
D25V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,598,878 (GRCm39) |
H11018R |
possibly damaging |
Het |
| Txn1 |
A |
T |
4: 57,950,883 (GRCm39) |
Y49N |
probably benign |
Het |
| Ulk2 |
C |
T |
11: 61,672,886 (GRCm39) |
A903T |
probably damaging |
Het |
| Vmn2r77 |
G |
A |
7: 86,444,360 (GRCm39) |
M4I |
unknown |
Het |
| Vmn2r85 |
G |
T |
10: 130,254,561 (GRCm39) |
L708I |
probably benign |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vrk2 |
T |
A |
11: 26,485,638 (GRCm39) |
R117* |
probably null |
Het |
| Xpo6 |
A |
T |
7: 125,712,980 (GRCm39) |
|
probably benign |
Het |
| Zdhhc14 |
C |
A |
17: 5,803,157 (GRCm39) |
T420K |
probably benign |
Het |
| Zfp334 |
G |
T |
2: 165,228,869 (GRCm39) |
|
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,990 (GRCm39) |
C338* |
probably null |
Het |
|
| Other mutations in Eloa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00726:Eloa
|
APN |
4 |
135,738,076 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL00839:Eloa
|
APN |
4 |
135,738,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Eloa
|
APN |
4 |
135,741,758 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01475:Eloa
|
APN |
4 |
135,738,231 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03151:Eloa
|
APN |
4 |
135,737,732 (GRCm39) |
nonsense |
probably null |
|
|
R1737:Eloa
|
UTSW |
4 |
135,738,081 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2995:Eloa
|
UTSW |
4 |
135,738,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4414:Eloa
|
UTSW |
4 |
135,738,576 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4414:Eloa
|
UTSW |
4 |
135,738,553 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4704:Eloa
|
UTSW |
4 |
135,738,525 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5357:Eloa
|
UTSW |
4 |
135,736,559 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5437:Eloa
|
UTSW |
4 |
135,740,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Eloa
|
UTSW |
4 |
135,737,133 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6897:Eloa
|
UTSW |
4 |
135,740,220 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7124:Eloa
|
UTSW |
4 |
135,736,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Eloa
|
UTSW |
4 |
135,734,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7689:Eloa
|
UTSW |
4 |
135,736,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8155:Eloa
|
UTSW |
4 |
135,734,438 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8389:Eloa
|
UTSW |
4 |
135,733,622 (GRCm39) |
missense |
probably benign |
|
|
R8487:Eloa
|
UTSW |
4 |
135,736,668 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8548:Eloa
|
UTSW |
4 |
135,732,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8866:Eloa
|
UTSW |
4 |
135,737,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9386:Eloa
|
UTSW |
4 |
135,737,847 (GRCm39) |
missense |
probably benign |
|
|
R9427:Eloa
|
UTSW |
4 |
135,748,935 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
| Posted On |
2015-04-16 |
Incidental Mutation